The Symptoms of Rett Syndrome, Katie Style

This is a repost from a while back, but as we trek through October, I thought I’d share again. Thanks to all those who love my girl, just the way she is. (A subtle reference to my favorite line from Bridget Jones’ Diary)

Here’s a list of SOME of the symptoms of Rett Syndrome, taken from the Mayo Clinic Website

  • Slowed growth. Brain growth slows after birth. Smaller than normal head size is usually the first sign that a child has Rett syndrome. It generally starts to become apparent after 6 months of age. As children get older, delayed growth in other parts of the body becomes evident.

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Katelin’s head circumference dropped dramatically at around 15 months of age. Even though it was measured, the doctors NEVER NOTICED or mentioned it to me, until her regular pediatrician who was on TAD (Temporary Assigned Duty) came back and saw her at 18 months. Meanwhile, I brought Katelin to the doctors at least 4 times during the three months in between, begging the doctor’s “What is wrong with my child, please help!” only to be told there was nothing wrong. A mother’s heart knows. Thank goodness for the doctors who listen.

  • Loss of normal movement and coordination. The most significant loss of movement skills (motor skills) usually starts between 12 and 18 months of age. The first signs often include a decrease of hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly and then continues more gradually.

Katelin lost her hand use and walking ability between 15-18 months. Her walking came back shortly after at around 2 years or so, her hand use gradually returned over the years. She is one of the fortunate ones. But it took seven years to teach her how to feed herself again. Seven years of hand over hand, over and over, special spoons with bent handles, try after try after try. This is the struggle for every skill that is relearned/regained. She’s 21 and learned to catch a ball just three years ago.

  • Loss of communication and thinking abilities. Children with Rett syndrome typically begin to lose the ability to speak and to communicate in other ways. They may become uninterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of speech. Over time, most children gradually regain eye contact and develop nonverbal communication skills.

Katelin lost all her speech between 15-18 months. She withdrew into her own world. I thought she was autistic, one of the common misdiagnoses. She wouldn’t look at me, I couldn’t touch her, She screamed for hours on end. Wouldn’t you? If your body was betraying you? It breaks my heart just thinking about it. Her first word (again) came at around 2 1/2, Momma. And that was it for years. But really, it IS the most important word. :)! Eye gaze became her language, and I had to learn it, catch the subtle glance, ever vigilant so that I didn’t miss something. What a strain, to know every waking minute, that your child’s needs and wants being answered depended upon you catching the smallest flicker of an eye. At around 7 she pointed for the first time. Now at 21, she can point more and more, but not every day, not every time. Eye gaze is still her greatest communicative option.

  • Abnormal hand movements. As the disease progresses, children with Rett syndrome typically develop their own particular hand patterns, which may include hand wringing, squeezing, clapping, tapping or rubbing.

Katelin’s hand movement, actually started in her feet! At around 12 months, her feet began to turn one over the other. It was actually difficult to put her shoes on! I thought it was kind of cute at the time, now if I could go back in time, I would grab them and cry “stop, stop, oh please stop, don’t be Retts” Eventually her hands took over. She rubbed her wrist at first, her left one. She rubbed it raw, it bled, it cracked. I had to cut a sock and slip it over her left hand and secure it with a child wrist band. Slowly, over the years, her right hand moved down and now she only rubs her left fingers up and down. She’s also very very lucky that she can stop this in order to use her hands. Her ability to use her hands is a miracle. Her hand motion has one positive note, when she gets anxious, her hands move faster and faster. This is a great measurement of how anxious or afraid she is, so that fear/anxiety can be acknowledged and dealt with.

  • Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking or closing one eye at a time.

Katie does sometimes go into a trance. I accept this, it doesn’t seem to bother her, and a snap of the fingers usually brings her back.

  • Breathing problems. These include breath-holding (apnea), abnormally rapid breathing (hyperventilation), and forceful exhalation of air or saliva. These problems tend to occur during waking hours, but not during sleep.

This is the one symptom Katelin has never had while awake. She has some difficulty when sleeping, but this is more likely due to the severity of her kyphosis (hunchback) than a respiratory issue. Still, she must sleep with her head elevated or risk aspiration in her sleep.

  • Irritability. Children with Rett syndrome become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly and last for hours.

Anyone who really knows Katie knows she’s a pro at this symptom. Rett Syndrome children are flooded with higher levels of Cortisol in stressful situations, making it that much harder to calm down or recover. Intensive behavioral therapy and medication have helped Katelin, but when she was younger and periodically through the years, there have been months and years at a time, when screaming and aggression have ruled the day. No one who has not experienced hours of non-stop screaming on a daily basis can understand the traumatic affect that has on family life. Every minute of every day revolved around Katelin’s ability to “handle” any particular situation. Family trips cut short, or simply cancelled-outings promised to her siblings. Her siblings, who have gone without sleep, had their childhood dictated by a screaming child, helped restrain her, been bitten and hit, have suffered as well. RETT SYNDROME AFFECTS THE WHOLE FAMILY.

  • Abnormal behaviors. These may include sudden, odd facial expressions and long bouts of laughter, screaming that occurs for no apparent reason, hand licking, and grasping of hair or clothing.

Yup, she’s got these alright. Quirky things she does. Drooling, that’s a big one. Now she grabs and pulls her hair down by her left ear. There was a time she would disrobe at every chance, even in the car, McDonald’s, wherever. Life was very interesting then.

  • Seizures. Most people who have Rett syndrome experience seizures at some time during their lives. Symptoms vary from person to person, and they can range from periodic muscle spasms to full-blown epilepsy.

Katie had seizures from age 3 to 7. I don’t know why they stopped. I’m just grateful they did. To see her tiny body shake, her eyes roll into the back of her head, to hold her while she shook and hear her whimper when she was done, is more than a heart should have to bear. The worst day was 18 seizures in the space of a morning, paralyzed on her right side for days, three days in the hospital, and her right side has never been the same. I was told just  last year that she actually might have had a small stroke. I bawled. Even 17 years later, knowing my child might have suffered in a way I was unaware of broke my heart. That is Rett Syndrome. Fear. Day after day of FEAR, that something major will be happening to your child, but they can’t tell you, you never know, never figure it out. I worry every single day that I will fail her by missing something until it’s too late. (update-no stroke! 🙂 )

  • Abnormal curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age.
An example of what Rett Syndrome can do to a spine. Katie's looks much the same as this.

An example of what Rett Syndrome can do to a spine. Katie’s looks much the same as this.

Katie has kyphosis (hunchback), it snuck up on us and went from nothing to worry about to too severe to do anything about in a year. Now we wait. It’s not IF surgery, it’s WHEN surgery. The ortho doc tells me it’s a fine line. Doing it before she’s too old to recover but holding off as long as possible because it’s a major surgery with “risk”. I know what that “risk” is. Failure, paralysis, death.

  • Irregular heartbeat (dysrhythmia). This is a life-threatening problem for many children and adults with Rett syndrome.

Katelin is checked yearly for Prolonged QT. Long QT syndrome (LQTS) is a heart rhythm disorder that can potentially cause fast, chaotic heartbeats. These rapid heartbeats may trigger a sudden fainting spell or seizure. In some cases, your heart may beat erratically for so long that it can cause sudden death. The thing is it can develop at anytime, without warning, in between those yearly EKG’s and I would never ever know.

  • Constipation. This is a common problem in people with Rett syndrome.

This is something all Rett parents can relate to. Every single one of us keeps track. This sounds so innocuous. Constipation, big deal. Well it is. Without intervention (medication) Katelin would most likely never have a bowel movement on her own. Constipation can lead to impaction which can lead to all sorts of medical emergencies. Constipation is a real source of pain for our children and it’s management is an important and never ending consideration.

Spread awareness, donate if you can. Support in all its forms are needed by the families of Rett children. With research and studies like the one Katelin participated in, you can easily see how much the quality of life of a child, parent, and family can be improved. Thank you!

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3 Responses to The Symptoms of Rett Syndrome, Katie Style

  1. Linda Wuilliams says:

    Heart-breaking disease.Is there a specific address to send contributions?
    My heart and prayers, as always, go with you and Katelin.

    • melelllan says:

      Linda, Thank you! There are different options, on the homepage here there’s a link under “donate” to, they help families get to and participate in clinical trials, this is my chosen charity. There is also the main Rett Syndrome site which also allows you to donate. Thank you so much, you have been ever kind to me and Katie. xoxo

  2. Betty Berger says:

    Mel. God bless you! All that I have just read is heartbreaking. I know yours must break a little each and every day. You are so vigilant with Katie’s care. Every movement, every victory, ever new word I know is a milestone for both of you. I admire how you deal with all of it every day. Katie is lucky she has you for a mom. All your kids are. If there was a way to wave that magic wand to make it all go away. Keep up the good work and vigilance and maybe someday your prayers will be answered and all that Katie has been through will help another child have an easier life with Rett. Love and hugs.

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